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Velocardiofacial Syndrome

Velocardiofacial syndrome (VCFS) is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and the conotruncal region of the heart. Shprintzen and colleagues first described the syndrome in 1978. [1] Its genetic cause is a microdeletion of chromosome 22 at band q11.2.

VCFS includes within its phenotypic spectrum the Diverge sequence, the Pierre Robin sequence, the CATCH-22 association (which is a medical acronym for Cardiac defects, Abnormal fancies, Thyme hyperplasia, Cleft palate, and Hypocalcemia), and disorders associated with CHARGE syndrome (another medical acronym for Coloboma of a person’s eye, Heart defects, Artesia of the change, Retardation of growth and development, Genital and urinary abnormalities, and Ear abnormalities and/or hearing loss). These are various different names to spell it out phenotypic variants of the VCFS

Factors behind Velocardiofacial Syndrome
Researchers have already been thinking about this question for numerous years. While the exact cause of Velocardiofacial syndrome remains unknown, investigators have identified an associated chromosomal defect in individuals with Velocardiofacial syndrome.

Most children identified as having Velocardiofacial syndrome are missing a tiny piece of chromosome 22. This so-called “deletion” is situated at a region of the chromosome called 22q11.2.

Which gene or genes situated on this section of chromosome 22 are missing and in charge of causing the features of Velocardiofacial syndrome remain unknown. This diagnosis can rarely be detected on chromosome analysis. Microarray testing detects the deletion.

There is a specific genetic test for the diagnosis of this disorder called a “FISH analysis” that can be performed in lots of medical centers, like the Heart Institute at Cincinnati Children’s.

In studying some families with Velocardiofacial syndrome, scientists have determined that it’s an autosomal dominant disorder. Which means only among the parents needs to have the chromosomal change to be able to pass it along to a child?

A parent with Velocardiofacial syndrome has a 50/50 chance of getting a young child with it. However, it’s estimated that Velocardiofacial syndrome is inherited this way in mere 10 percent to 15 percent of cases. All the time neither of the parents gets the syndrome nor carries the defective gene, and the reason for the deletion is named “sporadic.”

Deletions in this area of chromosome 22 have also been associated with other syndromes, including DiGeorge syndrome and one kind of OPITZ G/BBB syndrome.

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  • Associated Problems
    Long face with prominent upper jaw
    Underdeveloped lower jaw
    Low set ears
    Prominent nose with narrow nasal passages
    Thin upper lip with a down-slanted mouth
    Multiple abnormalities of one’s heart including ventricular sepal defect (VSD), pulmonary artesian, tetra logy of Fallout, trunks arteriosus, interrupted or right-sided aortic arch and transposition of the truly amazing arteries
    Learning disabilities in one or more areas
    Hearing loss
    Speech problems
    Behavior problems, including anxiety, ADHD and depression
    Dependence on Surgery
    With regards to the presence and severity of various features, any child with VCFS may need one or more of these surgeries:
  • Repair of heart defects (see set of specific congenital heart defects above)
    Repair of cleft palate
    Repair / reconstruction of the reduced jaw
    Reconstructive surgery of the ears

Velocardiofacial Syndrome Resources
Because various systems of your body in addition to one’s heart may be affected in patients with Velocardiofacial syndrome, these children need a multidisciplinary approach for their medical problems. They need a complete team working together to treat each body system.

In association with the Heart Institute, all other necessary medical personnel such as for example Genetics, Ear Nose Throat, Neurology, Child Development, Immunology, Endocrinology and Plastic Surgery specialists can be found at Cincinnati Children’s.

Many additional resources exist to simply help parents and families discover more about Velocardiofacial syndrome. These include:

VCFS is as a result of 22q11.2 deletion. Frequently neither parent gets the deletion and so it is new in the child (93 percent) and the chance for the couple to own another child with VCFS is quite low (close to zero). However, when the deletion is contained in a person he or she has a 50 percent chance for having children who also provide the deletion. The 22q11 deletion happens as an accident when either the egg or sperm are being formed or early in fetal development.

 

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